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ADAM12 Gene

protein-coding   GIFtS: 72
GCID: GC10M127693

ADAM Metallopeptidase Domain 12

(Previous name: a disintegrin and metalloproteinase domain 12 (meltrin alpha))
  Search for ADAM12
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ADAM Metallopeptidase Domain 121 2     Disintegrin And Metalloproteinase Domain-Containing Protein 122
MLTN2 3 5     meltrin-alpha2
A Disintegrin And Metalloproteinase Domain 12 (Meltrin Alpha)1     Metalloprotease-Disintegrin 12 Transmembrane2
Meltrin Alpha1     EC 3.4.24.-3
ADAM12-OT12     Meltrin-alpha3
CAR102     ADAM 123
MCMP2     EC 3.4.248
MCMPMltna2     EC 3.4.24.588
MLTNA2     

External Ids:    HGNC: 1901   Entrez Gene: 80382   Ensembl: ENSG000001488487   OMIM: 6027145   UniProtKB: O431843   

Export aliases for ADAM12 gene to outside databases

Previous GC identifers: GC10M126678 GC10M126907 GC10M127744 GC10M127278 GC10M121392


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ADAM12 Gene:
This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and
have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions,
including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a
maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants
encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form.
(provided by RefSeq, Jan 2014)

GeneCards Summary for ADAM12 Gene:
ADAM12 (ADAM metallopeptidase domain 12) is a protein-coding gene. GO annotations related to this gene include metallopeptidase activity and SH3 domain binding. An important paralog of this gene is ADAM7.

UniProtKB/Swiss-Prot: ADA12_HUMAN, O43184
Function: Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in
macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity)

Gene Wiki entry for ADAM12 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADAM12 gene promoter:
         POU2F1   Pbx1a   POU2F1a   MyoD   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAM12 promoter sequence
   Search Chromatin IP Primers for ADAM12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADAM12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q26   Ensembl cytogenetic band:  10q26.2   HGNC cytogenetic band: 10q26

ADAM12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAM12 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M127693:  view genomic region     (about GC identifiers)

Start:
127,700,950 bp from pter      End:
128,077,127 bp from pter
Size:
376,178 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ADA12_HUMAN, O43184 (See protein sequence)
Recommended Name: Disintegrin and metalloproteinase domain-containing protein 12 precursor  
Size: 909 amino acids; 99542 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: Interacts with alpha-actinin-2 and with syndecans (By similarity). Interacts with SH3PXD2A. Interacts
with FST3. Interacts with GNB2L1/RACK1; the interaction is required for PKC-dependent translocation of ADAM12 to
the cell membrane
Secondary accessions: O60470 Q5JRP0 Q5JRP1 Q6P9E3 Q6UWB0
Alternative splicing: 4 isoforms:  O43184-1   O43184-2   O43184-3   O43184-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADAM12: NX_O43184

Explore proteomics data for ADAM12 at MOPED

Post-translational modifications: 

  • The precursor is cleaved by a furin endopeptidase (By similarity)1
  • Glycosylation2 at Asn111, Asn149, Asn381, Asn452, Asn651
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for ADAM12 (O43184)
     CCNATTC  GEECDCG  EEGEECDCG 


    See ADAM12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001275902.1  NP_001275903.1  NP_001275904.1  NP_003465.3  NP_067673.2  

    ENSEMBL proteins: 
     ENSP00000357668   ENSP00000357665   ENSP00000391268  
    Reactome Protein details: O43184

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ADAM: ADAM metallopeptidase domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: ADAM12
    ADAM

    Selected InterPro protein domains (see all 7):
     IPR024079 MetalloPept_cat_dom
     IPR006586 ADAM_Cys-rich
     IPR000742 EG-like_dom
     IPR018358 Disintegrin_CS
     IPR001762 Blood-coag_inhib_Disintegrin

    Graphical View of Domain Structure for InterPro Entry O43184

    ProtoNet protein and cluster: O43184

    3 Blocks protein domains:
    IPB001762 Disintegrin
    IPB002870 Metalloendopeptidase M12B
    IPB006586 ADAM


    UniProtKB/Swiss-Prot: ADA12_HUMAN, O43184
    Domain: The cysteine-rich domain supports cell adhesion through syndecans and triggers signaling events that lead
    to beta-1 integrin-dependent cell spreading. In carcinomas cells the binding of this domain to syndecans does not
    allow the integrin-mediated cell spreading
    Domain: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting
    the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the
    enzyme
    Similarity: Contains 1 disintegrin domain
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 1 peptidase M12B domain


    Find genes that share domains with ADAM12           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ADA12_HUMAN, O43184
    Function: Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in
    macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity)

         Genatlas biochemistry entry for ADAM12:
    a disintegrin and metalloprotease (active) domain 12,membrane anchored cell surface protein,with two alternatively
    spliced isoforms L and S,expressed in term placenta,in adult skeletal,cardiac,smooth muscle,bone,required for
    myotube formation and in osteoblast differentiation,involved in tumor cell adhesion

         Enzyme Numbers (IUBMB): EC 3.4.24.-1 EC 3.4.24.582 EC 3.4.242

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005515protein binding IPI15574124
    GO:0008237metallopeptidase activity TAS9417060
    GO:0008270zinc ion binding IEA--
    GO:0017124SH3 domain binding IPI15280379
         
    Find genes that share ontologies with ADAM12           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Adam12):
     adipose tissue  cardiovascular system  mortality/aging  muscle  vision/eye 

    Find genes that share phenotypes with ADAM12           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Adam12tm1Asf for ADAM12

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADAM12
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    Selected qRT-PCR Assays for microRNAs that regulate ADAM12 (see all 84):
    hsa-miR-3607-3p hsa-miR-3653 hsa-miR-30d hsa-miR-759 hsa-miR-30a hsa-miR-3116 hsa-miR-4293 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidADAM12 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ADA12_HUMAN, O43184: Isoform 1: Cell membrane; Single-pass type I membrane protein
    ADA12_HUMAN, O43184: Isoform 2: Secreted
    ADA12_HUMAN, O43184: Isoform 3: Secreted (Potential)
    ADA12_HUMAN, O43184: Isoform 4: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    mitochondrion4
    nucleus4
    cytoskeleton1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005634nucleus ----
    GO:0005739mitochondrion ----
    GO:0005886plasma membrane IDA15280379
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with ADAM12           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ADAM12 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by FGFR
    Signaling by EGFR0.83
    Signaling by EGFR in Cancer0.82
    2Development Dopamine D2 receptor transactivation of EGFR
    Development Dopamine D2 receptor transactivation of EGFR0.66
    Development Alpha 2 adrenergic receptor activation of ERK0.66
    3Development Angiotensin activation of ERK
    Development Angiotensin activation of ERK0.74
    4Matrix Metalloproteinases
    Inhibition of Matrix Metalloproteinases0.68
    5Signaling by GPCR
    Signal Transduction0.58


    Find genes that share SuperPaths with ADAM12           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ADAM12
        Inhibition of Matrix Metalloproteinases

    3 GeneGo (Thomson Reuters) Pathways for ADAM12
        Development Angiotensin activation of ERK
    Development Dopamine D2 receptor transactivation of EGFR
    Development Alpha-2 adrenergic receptor activation of ERK

    2 BioSystems Pathways for ADAM12
        Syndecan-4-mediated signaling events
    Notch signaling pathway

    1 Sino Biological Pathway for ADAM12
        Notch Signaling Pathway

    1 Reactome Pathway for ADAM12
        Signaling by EGFR


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADAM12
    Interactions:

        GeneGlobe Interaction Network for ADAM12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for ADAM12 (O431841, 2, 3 ENSP000003576684) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3D19Q5HYK72, 3, ENSP000003029134MINT-56613 MINT-56611 MINT-56614 MINT-56612 I2D: score=2 STRING: ENSP00000302913
    FSTL3O956331, 3, ENSP000001661394EBI-2625865,EBI-2625790 I2D: score=1 STRING: ENSP00000166139
    ACTN2P356093, ENSP000003555374I2D: score=2 STRING: ENSP00000355537
    IGFBP5P245933, ENSP000002338134I2D: score=2 STRING: ENSP00000233813
    PIK3R1P279863, ENSP000002743354I2D: score=2 STRING: ENSP00000274335
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0007155cell adhesion IEA--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007520myoblast fusion TAS7566181

    Find genes that share ontologies with ADAM12           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ADAM12 (ADA12)

    1 Novoseek inferred chemical compound relationship for ADAM12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ly294002 19.5 2 16139919 (1), 12717386 (1)



    Find genes that share compounds with ADAM12           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ADAM12 gene (5 alternative transcripts): 
    NM_001288973.1  NM_001288974.1  NM_001288975.1  NM_003474.5  NM_021641.4  

    Unigene Cluster for ADAM12:

    ADAM metallopeptidase domain 12
    Hs.594351  [show with all ESTs]
    Unigene Representative Sequence: NM_003474
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368679(uc001ljk.2 uc010qul.1) ENST00000368676(uc001ljm.3 uc001ljn.3 uc001ljl.4)
    ENST00000467145 ENST00000482291 ENST00000485388 ENST00000448723 ENST00000494661

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    hsa-miR-3607-3p hsa-miR-3653 hsa-miR-30d hsa-miR-759 hsa-miR-30a hsa-miR-3116 hsa-miR-4293 hsa-miR-3148
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    Additional mRNA sequence: 

    AF023476.2 AF023477.2 AK022196.1 AK055628.1 AK127856.1 AK291629.1 AY358878.1 BC060804.1 

    Selected DOTS entries (see all 55):

    DT.95357317  DT.100761106  DT.100797831  DT.121223074  DT.95357338  DT.86853140  DT.92459374  DT.99980124 
    DT.95357321  DT.91701420  DT.95320779  DT.92459370  DT.95357332  DT.100797829  DT.95090158  DT.91682841 
    DT.97811007  DT.121223228  DT.121223692  DT.100797826  DT.121223583  DT.121223209  DT.92459375  DT.100797827 

    Selected AceView cDNA sequences (see all 518):

    AI139427 AA411449 BU622804 AI095755 AI081994 BI056244 AW069127 BX343826 
    BG620679 AU138153 AU139173 BU752256 CR611911 H02608 BX952350 AL603111 
    AU139012 BQ014718 AU134592 H12677 BE208298 CA448457 AU137809 CR611528 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ADAM12    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
    SP1:                                                                                                                    -                                 
    SP2:                          -                                                                                                                           
    SP3:                          -                                                                                                                           
    SP4:                                                                                                                                                      


    ECgene alternative splicing isoforms for ADAM12

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ADAM12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGCCCTTC
    ADAM12 Expression
    About this image


    ADAM12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 20 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Somite (Muscoskeletal System)    fully expand to see all 16 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Limb (Muscoskeletal System)    fully expand to see all 9 entries
             Mesenchymal Condensate Cells Zeugopod
             Autopod
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Mesenchymal Condensate Cells Zeugopod
             Rib
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
    ADAM12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADAM12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.594351

    UniProtKB/Swiss-Prot: ADA12_HUMAN, O43184
    Tissue specificity: Isoform 1 is expressed in placenta and skeletal, cardiac, and smooth muscle. Isoform 2 seems
    to be expressed only in placenta or in embryo and fetus. Both forms were expressed in some tumor cells lines. Not
    detected in brain, lung, liver, kidney or pancreas

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ADAM12 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adam121 , 5 a disintegrin and metallopeptidase domain 12 (meltrin alpha) less1, 5 83.26(n)1
    81.96(a)1
      7 (77.61 cM)5
    114891  NM_007400.21  NP_031426.21 
     1338831995 
    chicken
    (Gallus gallus)
    Aves ADAM121 ADAM metallopeptidase domain 12 72.81(n)
    73.11(a)
      425843  NM_001142850.2  NP_001136322.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADAM126
    ADAM metallopeptidase domain 12
    65(a)
    1 ↔ 1
    3(63189426-63528796)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia adam121 ADAM metallopeptidase domain 12 66.82(n)
    66.63(a)
      677729  NM_001040014.1  NP_001035103.1 
    zebrafish
    (Danio rerio)
    Actinopterygii adam121 a disintegrin and metalloproteinase domain 12 (meltrin alpha) less 66.59(n)
    65.33(a)
      563275  XM_686639.6  XP_691731.6 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0134681 AgaP_AGAP013468 46.66(n)
    36.65(a)
      11175547  XM_003436449.1  XP_003436497.1 
    worm
    (Caenorhabditis elegans)
    Secernentea adm-13
    adm-21
    Disintegrin3
    adm-21
    31(a)3
    44.74(n)1
    31.42(a)1
      III(12952834-12963248)3
    1814891  NM_077890.31  NP_510291.11 


    ENSEMBL Gene Tree for ADAM12 (if available)
    TreeFam Gene Tree for ADAM12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADAM12 gene
    ADAM72  ADAM192  ADAM332  ADAM302  ADAM282  ADAM292  ADAM202  ADAM212  
    ADAM92  ADAM152  ADAM82  
    17 SIMAP similar genes for ADAM12 using alignment to 3 protein entries:     ADA12_HUMAN (see all proteins):
    ADAM9    ADAM19    ADAMDEC1    ADAM7    ADAM15    ADAM33
    ADAM21    ADAM23    ADAM28    ADAM11    ADAM20    ADAM22
    ADAM8    ADAM2    ADAM18    ADAM29    ADAM30

    Find genes that share paralogs with ADAM12           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ADAM12 (see all 8801)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361444
    A breast cancer sample4--see VAR_0361442 G E mis40--------
    VAR_0663104
    A cutaneous metastatic melanoma sample4--see VAR_0663102 G E mis40--------
    VAR_0361454
    A breast cancer sample4--see VAR_0361452 L F mis40--------
    VAR_0361434
    A breast cancer sample4--see VAR_0361432 D H mis40--------
    VAR_0663114
    A cutaneous metastatic melanoma sample4--see VAR_0663112 P S mis40--------
    rs286537281,2
    C--121429307(+) ATCCAG/TCCATC 2 -- int10--------
    rs2000317971,2
    C--121458307(-) GTTTTG/TTTTTT 2 -- int10--------
    rs339135101,2
    C--121463954(+) TCAGC-/TTCAAA 2 -- int10--------
    rs1840129331,2
    --121490640(+) CTCCGC/TCTCAA 2 -- int10--------
    rs772431251,2
    C--121494853(+) AATGTC/TTACCA 2 -- int10--------

    HapMap Linkage Disequilibrium report for ADAM12 (127700950 - 127950950 bp, first 250kb of ADAM12)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ADAM12 (see all 28):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv3244CNV Deletion18987735
    esv2493187CNV Deletion19546169
    esv2743006CNV Deletion23290073
    esv2658457CNV Deletion23128226
    esv2743017CNV Deletion23290073
    esv2665460CNV Deletion23128226
    esv2286058CNV Deletion18987734
    esv1001364CNV Deletion20482838
    esv2743029CNV Deletion23290073
    esv2743040CNV Deletion23290073

    Human Gene Mutation Database (HGMD): ADAM12
    1 Site Specific Mutation Identification with PCR Assay for ADAM12:
    Cosmic IdAA Change
    22798p.L792F
    SeqTarget long-range PCR primers for resequencing ADAM12
    DNA2.0 Custom Variant and Variant Library Synthesis for ADAM12

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602714    OMIM disorders: --

    2 diseases from the University of Copenhagen DISEASES database for ADAM12:
    pre-eclampsia     Down syndrome

    Find genes that share disorders with ADAM12           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ADAM12 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    down syndrome 50.4 20 19285649 (4), 14691998 (4), 20509157 (4), 18785180 (3) (see all 7)
    preeclampsia 41.4 10 15994630 (5), 18978109 (4)
    osteoarthritis knee 40.2 1 19268722 (1)
    giant cell tumors 34.3 5 11769731 (4), 16251041 (1)
    osteoarthritis 31.7 2 19601832 (1), 19268722 (1)
    trisomy 24.7 11 17701664 (5), 19285649 (2)
    tumors 21.4 32 15930294 (5), 17189408 (3), 11769731 (3), 16061220 (2) (see all 15)
    rhabdomyosarcoma 18.4 2 15364951 (1), 15574885 (1)
    chromosomal aberrations 7.78 6 17278174 (2), 19285649 (2), 17701664 (1)
    cancer 7.6 13 18342566 (1), 19473694 (1), 19544357 (1), 19601832 (1) (see all 11)

    Genetic Association Database (GAD): ADAM12
    Human Genome Epidemiology (HuGE) Navigator: ADAM12 (9 documents)

    Export disorders for ADAM12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ADAM12 gene, integrated from 10 sources (see all 194):
    (articles sorted by number of sources associating them with ADAM12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel, secreted form of human ADAM 12 (meltrin alpha) provokes myogenesis in vivo. (PubMed id 9417060)1, 2, 3, 9 Gilpin B.J....Wewer U.M. (J. Biol. Chem. 1998)
    2. RACK1, a new ADAM12 interacting protein. Contribution to liver fibrogenesis. (PubMed id 18621736)1, 2, 9 Bourd-Boittin K....Theret N. (J. Biol. Chem. 2008)
    3. Cellular roles of ADAM12 in health and disease. (PubMed id 18342566)1, 3, 9 Kveiborg M....Wewer U.M. (amp 2008)
    4. Interaction between the ADAM12 and SH3MD1 genes may confer susceptibility to late-onset Alzheimer's disease. (PubMed id 17440933)1, 4, 9 Harold D....Williams J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)
    5. A study of the association between the ADAM12 and SH3PXD2A (SH3MD1) genes and Alzheimer's disease. (PubMed id 19837132)1, 4, 9 Laumet G....Lambert J.C. (Neurosci. Lett. 2010)
    6. Missense single nucleotide polymorphism of the ADAM12 gene is associated with radiographic knee osteoarthritis in middle-aged Estonian cohort. (PubMed id 19268722)1, 4, 9 Kerna I....Tamm A.O. (Osteoarthr. Cartil. 2009)
    7. Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women. (PubMed id 16453284)1, 4, 9 Valdes A.M....Spector T.D. (Arthritis Rheum. 2006)
    8. Human ADAM 12 (meltrin alpha) is an active metalloprotease. (PubMed id 9642263)1, 2, 9 Loechel F.... Wewer U.M. (J. Biol. Chem. 1998)
    9. The adaptor protein fish associates with members of the ADAMs family and localizes to podosomes of Src-transformed cells. (PubMed id 12615925)1, 2, 9 Abram C.L....Courtneidge S.A. (J. Biol. Chem. 2003)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8038 HGNC: 190 AceView: ADAM12 Ensembl:ENSG00000148848 euGenes: HUgn8038
    ECgene: ADAM12 H-InvDB: ADAM12

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ADAM12 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ADAM12 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ADAM12 gene:
    Search GeneIP for patents involving ADAM12

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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